Canonical Allele Identifier: CA393678763
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98913053G>C , CM000677.2:g.98913053G>C GRCh38
NC_000015.9:g.99456282G>C , CM000677.1:g.99456282G>C GRCh37
NC_000015.8:g.97273805G>C NCBI36
NG_009492.1:g.268522G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000649865.1:c.1599G>C ENSP00000496919.1:p.Lys533Asn
ENST00000650285.1:c.1599G>C MANE Select ENSP00000497069.1:p.Lys533Asn
ENST00000268035.10:c.1599G>C ENSP00000268035.6:p.Lys533Asn
ENST00000558762.5:c.1599G>C ENSP00000453007.1:p.Lys533Asn
ENST00000559582.1:n.506G>C
ENST00000559925.5:n.1599G>C
NM_000875.4:c.1599G>C NP_000866.1:p.Lys533Asn
NM_001291858.1:c.1599G>C NP_001278787.1:p.Lys533Asn
XM_011521513.1:c.1662G>C XP_011519815.1:p.Lys554Asn
XM_011521514.1:c.1662G>C XP_011519816.1:p.Lys554Asn
XM_011521515.1:c.1662G>C XP_011519817.1:p.Lys554Asn
XM_011521516.1:c.690G>C XP_011519818.1:p.Lys230Asn
XM_011521517.1:c.264G>C XP_011519819.1:p.Lys88Asn
XM_011521516.2:c.690G>C XP_011519818.1:p.Lys230Asn
XM_011521517.2:c.264G>C XP_011519819.1:p.Lys88Asn
XM_017022136.1:c.1674G>C XP_016877625.1:p.Lys558Asn
XM_017022137.1:c.1674G>C XP_016877626.1:p.Lys558Asn
XM_017022138.1:c.1674G>C XP_016877627.1:p.Lys558Asn
XM_017022139.1:c.1236G>C XP_016877628.1:p.Lys412Asn
XM_024449913.1:c.690G>C XP_024305681.1:p.Lys230Asn
NM_000875.5:c.1599G>C MANE Select NP_000866.1:p.Lys533Asn
NM_001291858.2:c.1599G>C NP_001278787.1:p.Lys533Asn